title: Interstitial deletion 2p accompanied by marker chromosome formation of the deleted segment resulting in a stable acentric marker chromosome.
abstract: We reexamined a moderately mentally retarded patient with mild dysmorphism previously described with de novo 47,XY, del(2)(p11;p21), +acefr. Using fluorescence in situ hybridization (FISH), we now confirm the chromosome 2 nature of the extra marker resulting from interstitial deletion of del(2)(p11;p21) as well the lack alpha satellite DNA pattern. The authors suggest that a reactivation process of a latent centromere may explain the origin of this stable extra marker.
authors.affiliation: Center for Human Genetics, University Hospital of Leuven, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Petit
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male
chemical_list: D005819:Genetic Markers